[Pigmentary degeneration of the retina: neurological and biochemical findings (author's transl)].

1975 
: A report on the neurological results of an investigation carried out on 38 patients with pigmentary degeneration of the retina. The ophthalmological investigation did not indicate a systemic disease. The neurological findings, however, revealed a systemic disorder in many cases.-The constitutions of 20 patients (52.5%) were marked by pathological stigmata. The EEG was abnormal in more than 50% of the cases. The EMG showed a prolonged nerve conduction time for 2 of a total of 4 deaf patients. The EMG also revealed a patient with both pigmentary degeneration of the retina and a mold form of myasthenia gravis. The biochemical results indicated hyperlipoproteinemia in 6 cases (15.8%), diabetes mellitus in 2 cases and a pathological increase of uric acid in the serum in 8 cases. These results suggest that pigmentary degeneration of the retina is not a homogenous disease. It must be seen as a "phenomenologically identical, polygenetic type of reaction" (Janzen). A comprehensive analysis of the individual case can therefore lead to implications which are of direct therapeutic significance.
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